Canonical Allele Identifier: CA507833909
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1969092428
gnomAD v3: 19-45767038-T-C
gnomAD v4: 19-45767038-T-C
MyVariant Identifiers: chr19:g.46270296T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767038T>C , CM000681.2:g.45767038T>C GRCh38
NC_000019.9:g.46270296T>C , CM000681.1:g.46270296T>C GRCh37
NC_000019.8:g.50962136T>C NCBI36
NG_012745.1:g.7202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.921A>G MANE Select ENSP00000316842.4:p.Ala307=
ENST00000317578.6:c.921A>G ENSP00000316842.4:p.Ala307=
ENST00000560160.1:c.587-927A>G
ENST00000560168.1:c.*109A>G ENSP00000453189.2:n.*109A>G
ENST00000622857.1:c.16-1076A>G ENSP00000481365.1:n.16-1076A>G
NM_175875.4:c.921A>G NP_787071.2:p.Ala307=
NM_175875.5:c.921A>G MANE Select NP_787071.3:p.Ala307=
Search 100 bp 5'
Search 100 bp 3'